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Dear Editor,A subset of patients with neurofibromatosis type 1 (NF1) develop juvenile xanthogranulomas (JXG), the most common non‐Langerhans cell histiocytosis, and some patients also develop juvenile myelomonocytic leukaemia (JMML), a rare, and frequently lethal myeloproliferative‐myelodysplastic disorder of childhood. Yet, these associations are poorly delineated. We performed a systematic review to clarify the relationship between NF1, JXG, and JMML, and identify patients that may benefit from additional screening.PubMed was searched for articles describing NF1 patients with JXG and/or leukaemia. Eligibility criteria and screening methodology are described in Figure 1. Sixty‐two articles (date range 1966–2017) describing 177 patients were included. Patients were grouped by their association: NF1 + JXG (without leukaemia), NF1 + leukaemia (without JXG), NF1 + JXG + leukaemia. Additionally, we compared these groups including JMML cases only.1FIGUREPRISMA diagram of included studies. Articles were included if the full text was accessible in English, peer‐reviewed, and included a diagnosis of NF1 or mosaic NF1 (diagnosed genetically or clinically and including mosaic NF1) with JXG and/or leukaemia. Cases reported as myeloproliferative or myelodysplastic disease other than JMML, chronic myelomonocytic leukaemia (CMML; CMML of infancy, but not CMML in adults, is now referred to as JMML), and leukaemias were excluded. The initial literature search resulted in 436 articles. Of these, 142
Journal of the European Academy of Dermatology and Venereology – Wiley
Published: Dec 1, 2023
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